Mutagenetix > Incidental Mutations

Incidental Mutation 'R9058:Dnah7c'

688786

Institutional Source

Beutler Lab

Gene Symbol

Dnah7c

Ensembl Gene

ENSMUSG00000101337

Gene Name

dynein, axonemal, heavy chain 7C

Synonyms

Dnahc7c

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.371) question?

Stock #

R9058 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46425592-46807476 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 46766656 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 3422 (G3422W)

Ref Sequence

ENSEMBL: ENSMUSP00000140430 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000189749]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000189749
AA Change: G3422W

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140430
Gene: ENSMUSG00000101337
AA Change: G3422W

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	37	48	N/A	INTRINSIC
coiled coil region	714	746	N/A	INTRINSIC
Pfam:DHC_N2	754	1167	2.2e-138	PFAM
AAA	1320	1459	4e-3	SMART
Blast:AAA	1601	1829	4e-87	BLAST
AAA	1968	2116	8.7e-4	SMART
Pfam:AAA_8	2303	2574	6.2e-73	PFAM
Pfam:MT	2586	2935	5.4e-52	PFAM
Pfam:AAA_9	2953	3183	7.4e-63	PFAM
Pfam:Dynein_heavy	3312	4021	1.3e-250	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	T	C	17: 23,716,042	N63S	probably benign	Het
1700007G11Rik	A	T	5: 98,784,541	D200V	probably damaging	Het
Acox1	T	C	11: 116,189,442	T135A	possibly damaging	Het
Aldh8a1	T	C	10: 21,382,445	I147T	possibly damaging	Het
Alkbh5	T	C	11: 60,553,722	L288S	probably benign	Het
Arhgap8	A	G	15: 84,757,040	N169S	probably benign	Het
BC030867	T	C	11: 102,255,560	S221P	probably benign	Het
Bpifb5	A	G	2: 154,238,897	D478G	possibly damaging	Het
Cacna1s	A	T	1: 136,070,698	K155*	probably null	Het
Ccser1	T	C	6: 61,373,992	L511P	probably damaging	Het
Cebpz	A	T	17: 78,935,798	N142K	probably benign	Het
Clip1	G	T	5: 123,614,582	R379S		Het
Cpne8	T	A	15: 90,497,073	I513F	probably damaging	Het
Ctnnb1	T	A	9: 120,951,410	C213*	probably null	Het
Dnah7b	A	G	1: 46,243,415	K2903E	probably damaging	Het
Dnhd1	T	A	7: 105,684,063	H247Q	probably benign	Het
Efna2	A	G	10: 80,186,886	Y88C	probably damaging	Het
Elmsan1	A	G	12: 84,173,868	M104T	probably damaging	Het
Eppk1	C	T	15: 76,108,065	G1539R	probably benign	Het
Exoc3l2	A	T	7: 19,469,896	K138*	probably null	Het
Fam47e	A	G	5: 92,571,508		probably benign	Het
Frmpd1	T	A	4: 45,283,948	M923K	probably damaging	Het
Gbe1	A	G	16: 70,527,171	E558G	possibly damaging	Het
Gm5431	T	C	11: 48,895,222	T109A	probably benign	Het
Gm9508	G	A	10: 77,696,786	P150S	unknown	Het
Gm9774	A	T	3: 92,428,252	M283K	probably benign	Het
Hps4	G	A	5: 112,378,039	S642N	possibly damaging	Het
Hsfy2	A	T	1: 56,637,345	V11D	probably benign	Het
Kif13a	T	C	13: 46,791,465	N887D	probably damaging	Het
Kirrel	A	G	3: 87,085,135	V541A	probably benign	Het
Klk15	C	T	7: 43,938,366	H73Y	possibly damaging	Het
Lamc3	G	A	2: 31,908,641	R453H	probably benign	Het
Muc6	G	C	7: 141,638,241	T2173S	possibly damaging	Het
Neb	T	C	2: 52,185,329	N208S	probably benign	Het
Nlrc5	A	T	8: 94,512,310	T1459S	possibly damaging	Het
Npy1r	T	C	8: 66,703,948	S7P	probably benign	Het
Nr4a2	T	C	2: 57,112,243	N66S	probably benign	Het
Nr5a1	T	C	2: 38,694,022	T462A	probably damaging	Het
Ntng2	A	G	2: 29,204,190	C390R	probably benign	Het
Olfr1198	A	C	2: 88,746,686	D67E		Het
Olfr1475	G	A	19: 13,479,592	T202I	possibly damaging	Het
Olfr834	T	A	9: 18,988,926	*313R	probably null	Het
Pecam1	G	T	11: 106,699,849	P33Q	probably damaging	Het
Phc2	T	A	4: 128,722,976	F347L	probably benign	Het
Phldb2	T	A	16: 45,772,241	H938L	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Prkch	G	T	12: 73,775,534		probably null	Het
Puf60	C	T	15: 76,070,576	D483N	probably benign	Het
Puf60	C	T	15: 76,072,533	M133I	probably benign	Het
Rmnd1	T	C	10: 4,413,398	H284R	probably benign	Het
Scaper	T	C	9: 55,815,478	E682G	probably damaging	Het
Sds	A	G	5: 120,480,714	E111G	possibly damaging	Het
Sec23b	T	A	2: 144,582,090	I553N	probably damaging	Het
Serpina1a	A	T	12: 103,853,742	I415K	possibly damaging	Het
Slc14a1	T	A	18: 78,102,570		probably null	Het
Socs1	G	A	16: 10,784,828	P15L	probably benign	Het
Sv2b	A	T	7: 75,140,074		probably null	Het
Sync	T	C	4: 129,293,424	I83T	probably damaging	Het
Syt16	T	A	12: 74,235,245	L381Q	probably damaging	Het
Tbx20	T	C	9: 24,769,723	R158G	probably damaging	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Tmem19	C	A	10: 115,362,126		probably benign	Het
Trpa1	A	C	1: 14,889,394	N689K	probably damaging	Het
Ube3b	C	A	5: 114,415,239	H891N	probably benign	Het
Vmn2r19	T	A	6: 123,336,062	M697K	possibly damaging	Het
Zfp142	A	T	1: 74,569,796	C1613*	probably null	Het
Zfp7	T	A	15: 76,880,781	M1K	probably null	Het
Zfp936	A	T	7: 43,189,772	Q221L	probably benign	Het

Other mutations in Dnah7c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00559:Dnah7c	APN	1	46807289	missense	possibly damaging	0.72
IGL02958:Dnah7c	APN	1	46657111	missense	probably damaging	1.00
IGL03035:Dnah7c	APN	1	46524117	missense	probably benign	0.37
IGL03161:Dnah7c	APN	1	46467296	missense	probably benign	0.20
IGL03178:Dnah7c	APN	1	46467365	missense	probably benign
IGL03052:Dnah7c	UTSW	1	46632149	missense	probably damaging	1.00
R0751:Dnah7c	UTSW	1	46465905	missense	probably benign
R1029:Dnah7c	UTSW	1	46612721	missense	probably damaging	1.00
R3104:Dnah7c	UTSW	1	46798279	missense	probably damaging	0.97
R3977:Dnah7c	UTSW	1	46628911	missense	possibly damaging	0.75
R4003:Dnah7c	UTSW	1	46681817	missense	probably damaging	1.00
R4133:Dnah7c	UTSW	1	46665990	missense	probably benign	0.01
R4303:Dnah7c	UTSW	1	46748578	missense	probably damaging	1.00
R4329:Dnah7c	UTSW	1	46649281	missense	probably benign	0.33
R4434:Dnah7c	UTSW	1	46666282	missense	probably damaging	1.00
R4457:Dnah7c	UTSW	1	46740621	missense	probably damaging	1.00
R4470:Dnah7c	UTSW	1	46748635	missense	possibly damaging	0.56
R4507:Dnah7c	UTSW	1	46766611	missense	probably damaging	1.00
R4527:Dnah7c	UTSW	1	46532931	missense	probably benign	0.34
R4571:Dnah7c	UTSW	1	46533216	missense	probably damaging	0.99
R4589:Dnah7c	UTSW	1	46514583	nonsense	probably null
R4731:Dnah7c	UTSW	1	46770173	missense	probably damaging	1.00
R4732:Dnah7c	UTSW	1	46770173	missense	probably damaging	1.00
R4733:Dnah7c	UTSW	1	46770173	missense	probably damaging	1.00
R4747:Dnah7c	UTSW	1	46533168	missense	probably damaging	1.00
R4845:Dnah7c	UTSW	1	46793532	missense	probably damaging	1.00
R4873:Dnah7c	UTSW	1	46688925	missense	probably benign
R4875:Dnah7c	UTSW	1	46688925	missense	probably benign
R4916:Dnah7c	UTSW	1	46595008	missense	probably damaging	1.00
R5241:Dnah7c	UTSW	1	46530500	missense	probably benign
R5279:Dnah7c	UTSW	1	46519269	missense	probably benign	0.14
R5327:Dnah7c	UTSW	1	46665568	missense	probably benign	0.05
R5546:Dnah7c	UTSW	1	46666317	missense	probably damaging	1.00
R5605:Dnah7c	UTSW	1	46798235	missense	possibly damaging	0.84
R5637:Dnah7c	UTSW	1	46760361	splice site	probably null
R5639:Dnah7c	UTSW	1	46739668	missense	probably benign
R5663:Dnah7c	UTSW	1	46535148	missense	probably damaging	1.00
R5718:Dnah7c	UTSW	1	46748666	missense	possibly damaging	0.47
R5759:Dnah7c	UTSW	1	46615367	missense	probably damaging	1.00
R5771:Dnah7c	UTSW	1	46639665	missense	probably benign	0.00
R5784:Dnah7c	UTSW	1	46524068	missense	possibly damaging	0.80
R5800:Dnah7c	UTSW	1	46647015	missense	probably benign	0.01
R5933:Dnah7c	UTSW	1	46519215	missense	probably damaging	1.00
R5948:Dnah7c	UTSW	1	46672497	missense	probably benign	0.21
R6034:Dnah7c	UTSW	1	46457258	missense	probably benign	0.00
R6034:Dnah7c	UTSW	1	46457258	missense	probably benign	0.00
R6487:Dnah7c	UTSW	1	46769124	missense	probably damaging	1.00
R6536:Dnah7c	UTSW	1	46658290	missense	probably benign	0.00
R6614:Dnah7c	UTSW	1	46649340	missense	probably benign
R6614:Dnah7c	UTSW	1	46649351	missense	probably benign
R6615:Dnah7c	UTSW	1	46515439	missense	probably benign	0.01
R6615:Dnah7c	UTSW	1	46649340	missense	probably benign
R6615:Dnah7c	UTSW	1	46649351	missense	probably benign
R6649:Dnah7c	UTSW	1	46649340	missense	probably benign
R6649:Dnah7c	UTSW	1	46649351	missense	probably benign
R6650:Dnah7c	UTSW	1	46649340	missense	probably benign
R6650:Dnah7c	UTSW	1	46649351	missense	probably benign
R6651:Dnah7c	UTSW	1	46649340	missense	probably benign
R6651:Dnah7c	UTSW	1	46649351	missense	probably benign
R6653:Dnah7c	UTSW	1	46649340	missense	probably benign
R6653:Dnah7c	UTSW	1	46649351	missense	probably benign
R6714:Dnah7c	UTSW	1	46740806	missense	probably damaging	0.99
R6729:Dnah7c	UTSW	1	46672521	missense	possibly damaging	0.46
R6760:Dnah7c	UTSW	1	46649340	missense	probably benign
R6760:Dnah7c	UTSW	1	46649351	missense	probably benign
R6763:Dnah7c	UTSW	1	46628890	missense	possibly damaging	0.60
R6866:Dnah7c	UTSW	1	46657243	missense	probably damaging	1.00
R6880:Dnah7c	UTSW	1	46527671	missense	probably damaging	0.97
R6988:Dnah7c	UTSW	1	46666213	missense	possibly damaging	0.68
R6995:Dnah7c	UTSW	1	46455813	missense	probably benign	0.07
R7007:Dnah7c	UTSW	1	46532750	missense	probably benign	0.04
R7086:Dnah7c	UTSW	1	46750125	missense	probably benign	0.00
R7128:Dnah7c	UTSW	1	46527485	missense	probably benign
R7131:Dnah7c	UTSW	1	46681772	missense	probably benign	0.00
R7135:Dnah7c	UTSW	1	46533208	missense	probably damaging	1.00
R7171:Dnah7c	UTSW	1	46680738	missense	probably damaging	0.99
R7176:Dnah7c	UTSW	1	46430809	missense	probably benign	0.00
R7221:Dnah7c	UTSW	1	46455777	missense	possibly damaging	0.87
R7310:Dnah7c	UTSW	1	46596967	missense	possibly damaging	0.94
R7319:Dnah7c	UTSW	1	46780775	missense	probably benign	0.31
R7319:Dnah7c	UTSW	1	46784448	missense	possibly damaging	0.95
R7404:Dnah7c	UTSW	1	46666063	missense	possibly damaging	0.52
R7452:Dnah7c	UTSW	1	46647036	missense	possibly damaging	0.91
R7515:Dnah7c	UTSW	1	46457290	missense	probably benign
R7534:Dnah7c	UTSW	1	46770067	missense	probably damaging	0.98
R7542:Dnah7c	UTSW	1	46784498	missense	probably benign	0.00
R7605:Dnah7c	UTSW	1	46632310	missense	probably damaging	1.00
R7643:Dnah7c	UTSW	1	46602813	missense	probably benign
R7770:Dnah7c	UTSW	1	46626300	splice site	probably null
R7884:Dnah7c	UTSW	1	46791769	missense	probably benign	0.23
R7899:Dnah7c	UTSW	1	46514701	missense	probably benign	0.00
R8025:Dnah7c	UTSW	1	46457296	missense	probably benign	0.01
R8057:Dnah7c	UTSW	1	46688952	missense	possibly damaging	0.52
R8191:Dnah7c	UTSW	1	46607458	missense	possibly damaging	0.56
R8255:Dnah7c	UTSW	1	46659429	missense	probably damaging	1.00
R8428:Dnah7c	UTSW	1	46672376	missense	probably damaging	1.00
R8441:Dnah7c	UTSW	1	46533238	missense	probably damaging	1.00
R8485:Dnah7c	UTSW	1	46680792	missense	probably benign	0.05
R8559:Dnah7c	UTSW	1	46725139	missense	probably damaging	1.00
R8752:Dnah7c	UTSW	1	46672541	missense	probably benign	0.00
R8869:Dnah7c	UTSW	1	46632344	missense	probably damaging	0.97
R9121:Dnah7c	UTSW	1	46665490	missense	probably damaging	0.97
R9121:Dnah7c	UTSW	1	46777736	missense	probably benign	0.00
R9246:Dnah7c	UTSW	1	46532774	missense	possibly damaging	0.51
R9319:Dnah7c	UTSW	1	46482008	missense	possibly damaging	0.94
R9388:Dnah7c	UTSW	1	46740726	missense	probably damaging	1.00
Z1176:Dnah7c	UTSW	1	46467302	missense	probably benign	0.00
Z1176:Dnah7c	UTSW	1	46615281	missense	probably damaging	1.00
Z1176:Dnah7c	UTSW	1	46639665	missense	probably benign
Z1176:Dnah7c	UTSW	1	46646992	critical splice acceptor site	probably null
Z1176:Dnah7c	UTSW	1	46760316	missense	possibly damaging	0.95
Z1177:Dnah7c	UTSW	1	46654103	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- ATACAGGGGAGTCCAGTTCAC -3'
(R):5'- TCCTGTGGCTGAGTGACAAG -3'

Sequencing Primer
(F):5'- TGGATATGCTAGCACACTCACTG -3'
(R):5'- GTGACAAGGTTTAGTTTTCTCTCATC -3'

Posted On

2021-11-19